Source: CURATED
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1057519369 | 0.790 | 0.280 | 17 | 31340532 | frameshift variant | -/G | delins | 13 | |||
rs886041347 | 0.790 | 0.320 | 17 | 31229061 | stop gained | C/T | snv | 12 | |||
rs397514641 | 0.827 | 0.320 | 17 | 31169985 | stop gained | C/T | snv | 4.0E-06 | 1.4E-05 | 11 | |
rs137854550 | 0.790 | 0.360 | 17 | 31258500 | missense variant | A/C;G | snv | 10 | |||
rs1555535032 | 0.882 | 0.120 | 17 | 31338734 | frameshift variant | TTAC/- | delins | 9 | |||
rs1057519370 | 0.882 | 0.120 | 17 | 31159091 | splice donor variant | G/- | delins | 7 | |||
rs772295894 | 0.807 | 0.280 | 17 | 31338739 | stop gained | C/A;G | snv | 4.0E-06 | 7 | ||
rs863224493 | 0.925 | 0.120 | 17 | 31352281 | stop gained | G/A | snv | 7 | |||
rs1131691073 | 0.827 | 0.280 | 17 | 31340553 | stop gained | C/T | snv | 6 | |||
rs1131691075 | 0.827 | 0.280 | 17 | 31235773 | splice donor variant | G/A;T | snv | 6 | |||
rs137854552 | 0.807 | 0.280 | 17 | 31334927 | stop gained | C/T | snv | 6 | |||
rs771529172 | 0.827 | 0.280 | 17 | 31327719 | missense variant | G/A;C;T | snv | 6 | |||
rs778405030 | 0.827 | 0.280 | 17 | 31206297 | stop gained | C/T | snv | 8.0E-06; 4.0E-06 | 6 | ||
rs786201367 | 0.827 | 0.280 | 17 | 31357308 | stop gained | C/T | snv | 6 | |||
rs786202112 | 0.827 | 0.280 | 17 | 31327839 | missense variant | G/A | snv | 6 | |||
rs786203896 | 0.827 | 0.280 | 17 | 31330468 | stop gained | G/T | snv | 6 | |||
rs876660696 | 0.827 | 0.280 | 17 | 31335016 | stop gained | G/A | snv | 6 | |||
rs1057518904 | 0.882 | 0.240 | 17 | 31221932 | missense variant | A/G | snv | 5 | |||
rs1064794277 | 0.827 | 0.280 | 17 | 31232832 | missense variant | G/A;C;T | snv | 5 | |||
rs137854556 | 0.827 | 0.280 | 17 | 31235729 | missense variant | G/A;C | snv | 4.0E-06 | 5 | ||
rs1555534433 | 0.827 | 0.280 | 17 | 31335032 | splice donor variant | G/A | snv | 5 | |||
rs1567847905 | 0.827 | 0.280 | 17 | 31227232 | stop gained | C/T | snv | 5 | |||
rs1567862991 | 0.827 | 0.280 | 17 | 31260481 | stop gained | C/T | snv | 5 | |||
rs760703505 | 0.882 | 0.200 | 17 | 31261733 | stop gained | C/T | snv | 8.0E-06 | 7.0E-06 | 5 | |
rs768638173 | 0.882 | 0.200 | 17 | 31226474 | stop gained | C/T | snv | 4.0E-06 | 1.4E-05 | 5 |